{
  "abstract": "Loss of methylthioadenosine phosphorylase creates a therapeutically dependency on PRMT5, yet current strategies select patients based only on MTAP genomic deletion. We performed an integrated analysis of DNA methylation and gene expression using TCGA, TARGET and ENCODE data to identify alternative mechanisms of MTAP inactivation. A promoter-proximal CpG site (cg25162921) showed a frequent hypermethylation and strong inverse correlation with MTAP mRNA expression across multiple tumor types and cell lines, including lung squamous cell carcinoma and glioblastoma. These findings identify promoter hypermethylation as a copy-number–independent mechanism of MTAP silencing and support epigenetic profiling evaluation in tumor samples into MTAP-based precision oncology.\n\nSupplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13148-026-02199-6.",
  "abstract_shown": true,
  "affiliations": [
    "CANMET Research Group, Cátedra INTHEOS-START-CEU de Oncología de Precision, Departamento de Ciencias Médicas Básicas, Facultad de Medicina, Instituto de Medicina Molecular Aplicada (IMMA), Universidad San Pablo-CEU, CEU Universities ES, Urbanización Montepríncipe, 28660 Boadilla del Monte, Spain",
    "Department of Bioinformatics, Semmelweis University, Tűzoltó U. 7-9, Budapest, 1094 Hungary",
    "START Madrid-FJD, Hospital Fundación Jiménez Díaz, Madrid, Spain",
    "Experimental Therapeutics Unit, Hospital Clínico San Carlos (HCSC) Instituto de Investigación Sanitaria San Carlos (IdISSC), San Carlos Clinical Hospital, Oncology, Madrid, Spain",
    "START Madrid-CIOCC, Centro Integral Oncológico Clara Campal, Madrid, Spain",
    "Laboratory for Bone Physiopathology, Cátedra INTHEOS-START-CEU de Oncología de Precision, Departamento de Ciencias Médicas Básicas, Facultad de Medicina, Instituto de Medicina Molecular Aplicada (IMMA), Universidad San Pablo-CEU, CEU Universities ES, Urbanización Montepríncipe, 28660 Boadilla del Monte, Spain",
    "Institute of Transdisciplinary Sciences, Medical School, University of Pecs, Pecs, 7624 Hungary",
    "Research Centre for Natural Sciences, Hungarian Research Network, Magyar Tudosok Korutja 2, Budapest, 1117 Hungary",
    "Centro de Investigación Biomédica en Red en Oncología (CIBERONC), Madrid, Spain"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 15,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Luis Álvarez-Carrión"
    },
    {
      "affs": [
        1
      ],
      "name": "Dalma Müller"
    },
    {
      "affs": [
        2
      ],
      "name": "Manuel Pedregal"
    },
    {
      "affs": [
        3
      ],
      "name": "Lucía Paniagua-Herranz"
    },
    {
      "affs": [
        0
      ],
      "name": "Irene Gutiérrez Rojas"
    },
    {
      "affs": [
        0
      ],
      "name": "Verónica Alonso"
    },
    {
      "affs": [
        3
      ],
      "name": "Jorge Bartolomé"
    },
    {
      "affs": [
        3
      ],
      "name": "Marta Amann"
    },
    {
      "affs": [
        3
      ],
      "name": "Esther Cabañas Morafraile"
    },
    {
      "affs": [
        2
      ],
      "name": "Bernard Doger"
    },
    {
      "affs": [
        4
      ],
      "name": "Emiliano Calvo"
    },
    {
      "affs": [
        5
      ],
      "name": "Juan Antonio Ardura"
    },
    {
      "affs": [
        1,
        6,
        7
      ],
      "name": "Balázs Győrffy"
    },
    {
      "affs": [
        2
      ],
      "name": "Víctor Moreno"
    },
    {
      "affs": [
        0,
        3,
        8
      ],
      "name": "Alberto Ocana"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2fb3nrrg1p7c6.bib",
  "cited_by": 0,
  "doi": "10.1186/s13148-026-02199-6",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13726188/",
  "id": "2fb3nrrg1p7c6",
  "issns": [
    "1868-7075",
    "1868-7083"
  ],
  "landing_url": "https://doi.org/10.1186/s13148-026-02199-6",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Brief Report"
    ],
    [
      "openalex",
      "1312|Epigenetics and DNA Methylation"
    ]
  ],
  "openalex": "W7167736045",
  "pdf_url": null,
  "pmcid": "PMC13726188",
  "pmid": "42421155",
  "published": "2026-07-08",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/2fb3nrrg1p7c6.ris",
  "sources": [
    {
      "first_seen": "2026-11-05T12:22:35Z",
      "native_id": "PMC13726188",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s13148-026-02199-6"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Epigenetics and DNA Methylation",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Tumor-type specific methylation patterns of MTAP in human samples and cell lines",
  "title_text": "Tumor-type specific methylation patterns of MTAP in human samples and cell lines",
  "type": "peer-reviewed",
  "updated_at": "2026-11-06T12:22:12Z",
  "url": "https://research.draconitic.com/paper/2fb3nrrg1p7c6",
  "venue": "Clinical Epigenetics",
  "versions": []
}